ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1106T>C (p.Leu369Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Erciyes University Faculty of Medicine RCV004691599 SCV004543759 likely pathogenic Pigmented paravenous retinochoroidal atrophy 2024-02-01 no assertion criteria provided clinical testing

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